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Liver Transplantation in Defects of Cholesterol Biosynthesis: The Case of Lathosterolosis
Author(s) -
Calvo P. L.,
Brunati A.,
Spada M.,
Romagnoli R.,
Corso G.,
Parenti G.,
Rossi M.,
Baldi M.,
Carbonaro G.,
David E.,
Pucci A.,
Amoroso A.,
Salizzoni M.
Publication year - 2014
Publication title -
american journal of transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.89
H-Index - 188
eISSN - 1600-6143
pISSN - 1600-6135
DOI - 10.1111/ajt.12645
Subject(s) - medicine , liver transplantation , lathosterol , transplantation , liver disease , central pontine myelinolysis , magnetic resonance imaging , cholestasis , cataracts , pediatrics , gastroenterology , surgery , cholesterol , ophthalmology , radiology , sterol , campesterol
We report the outcome of liver transplantation (LT) in the only surviving patient with lathosterolosis, a defect of cholesterol biosynthesis characterized by high lathosterol levels associated with progressive cholestasis, multiple congenital anomalies and mental retardation. From her diagnosis at age 2 she had shown autistic behavior, was unable to walk unaided and her sight was impaired by cataracts. By age 7 she developed end‐stage liver disease. After a soul‐searching discussion within the transplantation team, she was treated with LT as this represented her only lifesaving option. At 1‐year follow‐up, her lathosterol levels had returned to normal (0.61 mg/dL from 13.04 ± 2.65) and her nutrition improved. She began exploring her environment and walking by holding onto an adult's hand and then independently. Her brain magnetic resonance imaging (MRI) had shown a normal picture at age 1, whereas a volume reduction of white matter with ex vacuo ventricular dilatation and defective myelinization were observed before transplant. At 5‐year follow‐up, a complete biochemical recovery, an arrest of mental deterioration and a stable MRI picture were achieved, with a return to her every day life albeit with limitations. Timely liver transplant in defects of cholesterol biosynthesis might arrest the progression of neurological damage.